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ONTOLOGY REPORT - ANNOTATIONS


Term:Charcot-Marie-Tooth disease axonal type 2P
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Accession:DOID:0110169 term browser browse the term
Definition:A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)
Synonyms:exact_synonym: CMT 2G;   CMT2G;   CMT2P;   Charcot-Marie-Tooth disease, type 2G;   Charcot-Marie-Tooth disease, type 2P;   Charcot-Marie-Tooth neuropathy, type 2G;   Charcot-Marie-Tooth neuropathy, type 2P
 primary_id: OMIM:614436
 alt_id: RDO:0000515;   RDO:9000224
 xref: GARD:12435;   ORDO:300319
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Charcot-Marie-Tooth disease axonal type 2P term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lrsam1 leucine rich repeat and sterile alpha motif containing 1 JBrowse link 3 11,970,401 12,009,463 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 14927
      musculoskeletal system disease 4256
        neuromuscular disease 1504
          Charcot-Marie-Tooth disease 318
            Charcot-Marie-Tooth disease type 2 62
              Charcot-Marie-Tooth disease axonal type 2P 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          neurodegenerative disease 2691
            Nervous System Heredodegenerative Disorders 1719
              motor peripheral neuropathy 457
                Charcot-Marie-Tooth disease 318
                  Charcot-Marie-Tooth disease type 2 62
                    Charcot-Marie-Tooth disease axonal type 2P 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.